Gene Gene information from NCBI Gene database.
Entrez ID 79770
Gene name Thioredoxin domain containing 15
Gene symbol TXNDC15
Synonyms (NCBI Gene)
BUGC5orf14MKS14TMX5UNQ335
Chromosome 5
Chromosome location 5q31.1
Summary This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. [provided by RefSeq, Apr 2017]
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs768237094 C>A,T Pathogenic Synonymous variant, coding sequence variant, stop gained
rs886039791 AGTTTGGCCCCTCAC>- Likely-pathogenic Coding sequence variant, inframe deletion
rs886039792 G>A Likely-pathogenic Intron variant, splice donor variant
miRNA miRNA information provided by mirtarbase database.
612
miRTarBase ID miRNA Experiments Reference
MIRT050736 hsa-miR-18a-5p CLASH 23622248
MIRT1464915 hsa-let-7a CLIP-seq
MIRT1464916 hsa-let-7b CLIP-seq
MIRT1464917 hsa-let-7c CLIP-seq
MIRT1464918 hsa-let-7d CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IEA
GO:0005929 Component Cilium IBA
GO:0005929 Component Cilium IEA
GO:0005929 Component Cilium ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617778 20652 ENSG00000113621
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96J42
Protein name Thioredoxin domain-containing protein 15
Protein function Acts as a positive regulator of ciliary hedgehog signaling (By similarity). Involved in ciliogenesis (PubMed:27894351).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 191 293 Thioredoxin Domain
Sequence
MVPAAGRRPPRVMRLLGWWQVLLWVLGLPVRGVEVAEESGRLWSEEQPAHPLQVGAVYLG
EEELLHDPMGQDRAAEEANAVLGLDTQGDHMVMLSVIPGEAEDKVSSEPSGVTCGAGGAE
DSRCNVRESLFSLDGAGAHFPDREEEYYTEPEVAESDAAPTEDSNNTESLKSPKVNCEER
NITGLENFTLKILNMSQDLMDFLNPNGSDCTLVLFYTPWCRFSASLAPHFNSLPRAFPAL
HFLALDASQHSSLSTRFGTVAVPNILLFQGAKPMARFNHTDRTLETLKIFIFN
QTGIEAK
KNVVVTQADQIGPLPSTLIKSVDWLLVFSLFFLISFIMYATIRTESIRWLIPGQEQEHVE
Sequence length 360
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Meckel syndrome 14 Pathogenic rs2150192064, rs780024847, rs760579409, rs886039792, rs886039791, rs768237094 RCV002248457
RCV002248458
RCV002248459
RCV002248499
RCV002248498
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome Pathogenic rs886039792, rs886039791, rs768237094 RCV000256449
RCV000256431
RCV001000089
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIOPATHY CTD, ClinGen
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ambiguous Genitalia Ambiguous Genitalia CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies BEFREE 27894351
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ciliopathies Ciliopathy Pubtator 27894351 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon Carcinoma Colon Carcinoma BEFREE 31178140
★☆☆☆☆
Found in Text Mining only
Encephalocele Encephalocele CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Hematologic Neoplasms Hematologic Neoplasms BEFREE 19008459
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 30658391
★☆☆☆☆
Found in Text Mining only
Malignant tumor of colon Colonic Neoplasms BEFREE 31178140
★☆☆☆☆
Found in Text Mining only
Meckel syndrome type 1 Meckel Syndrome GENOMICS_ENGLAND_DG 27894351
★☆☆☆☆
Found in Text Mining only